A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600659



Internal ID16388068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179787250..179798594hg38UCSC Ensembl
Innerchr5:179214251..179225594hg19UCSC Ensembl
Innerchr5:179146857..179158200hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3811345
hg1911344
hg1811344
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1047022
Samples
Known GenesLTC4S, MGAT4B, MIR1229
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600659
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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